[Secondary surgeries in craniosynostosis and faciocraniosynostosis]. / Chirurgie secondaire des craniosténoses et faciocraniosténoses.

Secondary surgeries for single craniosynostosis surgeries are mainly esthetic refinements rather than functional indications. However, cranioplasties for bone defects correction or insufficient corrections may be undertaken. Management of syndromic craniosynostoses usually requires multiple surgical interventions, the sequence of which might vary per the genetic mutation. It is commonplace to start with posterior vault expansion before age 6 months, then treat cerebellar tonsillar herniation by the age of twelve months, and delay fronto-facial monobloc advancement until at least 18-24 months of age. Ventricular shunting is preferably avoided or delayed. Failure to respect these guidelines can significantly complicate the subsequent management. Primary fronto-orbital advancement or early facial osteotomy type Le Fort3, may compromise the subsequent fronto-facial monobloc advancement. However, this salvage secondary monobloc may be undertaken in some instances despite previous anterior osteotomies with a higher morbidity.

Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts.

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by deficiency of frataxin protein, with the primary sites of pathology being the large sensory neurons of the dorsal root ganglia and the cerebellum. FRDA is also often accompanied by severe cardiomyopathy and diabetes mellitus. Frataxin is important in mitochondrial iron-sulfur cluster (ISC) biogenesis and low-frataxin expression is due to a GAA repeat expansion in intron 1 of the FXN gene. FRDA cells are genomically unstable, with increased levels of reactive oxygen species and sensitivity to oxidative stress. Here we report the identification of elevated levels of DNA double strand breaks (DSBs) in FRDA patient and YG8sR FRDA mouse model fibroblasts compared to normal fibroblasts. Using lentivirus FXN gene delivery to FRDA patient and YG8sR cells, we obtained long-term overexpression of FXN mRNA and frataxin protein levels with reduced DSB levels towards normal. Furthermore, γ-irradiation of FRDA patient and YG8sR cells revealed impaired DSB repair that was recovered on FXN gene transfer. This suggests that frataxin may be involved in DSB repair, either directly by an unknown mechanism, or indirectly via ISC biogenesis for DNA repair enzymes, which may be essential for the prevention of neurodegeneration.

[Columella defects: yet a challenge!]. / Les pertes de substance de la columelle : encore un défi !

The repair of nasal defects is thought to be the most ancient of facial reconstructive procedures, dating back to at least 3000 BC in India. In spite of the development of nasal reconstruction concepts, leading to remarkable esthetic and functional improvements, columella reconstruction is yet a contemporary challenge. Columella defects may result from trauma, infections, carcinoma resection, syphilis, bilateral cleft lip, etc. Maintaining symmetry, contour and function are essential for a successful columella reconstruction. Multiple factors help to determine the optimal repair method, including the size of the defect, its depth and location, and the strength of the underlying nasal framework. This article presents a range of techniques and discusses the application of these methods to specific columella defects. A chronological review of columellar reconstruction procedures used for this partial rhinoplasty is exposed.

[Scurvy, a re-emerging disease]. / Le scorbut n'a pas disparu: histoire d'une maladie réémergente.

BACKGROUND: Scurvy is the clinical manifestation of vitamin C deficiency. It is historically linked to the era of great maritime expeditions. But it is remerging in Western countries as in France. SITUATION: Nowadays, scurvy mainly affects homeless populations of large occidental cities and the isolated and malnourished inhabitants of developing countries. The clinical presentations of scurvy are numerous and often misleading and its evolution without treatment is always lethal. After years of wanderings and research, the physiopathological mechanisms of scurvy were finally understood, due to the will of outstanding personalities who took the risk to brave the established superstitions in order to apply a strict medical approach. PERSPECTIVES: Scurvy must still be prevented in at risk-populations. Indeed a pocket meal enriched with vitamin C is distributed to homeless people in Paris.

A comparison of etodolac (Ultradol) with acetaminophen plus codeine (Tylenol #3) in controlling post-surgical pain in vasectomy patients.

The efficacy and safety of etodolac (Ultradol) and acetaminophen plus codeine [A + C (Tylenol #3)] in controlling post-surgical pain were compared in an open-label, randomized, parallel-group outpatient study. Patients who were voluntarily having a vasectomy performed for sterilization were assigned to receive either etodolac 200 mg (20 patients) or A + C (20 patients). All medication was taken as required for up to 7 days. Efficacy assessments were made at 1, 6 and 24 hours after surgery and included pain measurement (Likert Visual Analogue scale), patient and physician global assessments and time to analgesic relief. Safety assessments were made throughout the study and included vital signs and adverse event monitoring. Results of the study indicated that patients taking etodolac were more likely to say they could return to work 24 hours after their vasectomy (p = 0.04). There were no other statistically significant differences between the two groups of patients. The results from this study indicate that etodolac and A + C are equally efficacious and well-tolerated for the control of post-vasectomy pain and that patients may observe an increased benefit with etodolac by being able to return to work sooner.

[The formation of neurons in the bone marrow, the dream of alchemy in the new millenium]. / Fabriquer des neurones à partir de la moelle osseuse, le rêve des alchimistes du nouveau millénaire.

In rodents, bone marrow contains stem cells that have the potentiality to differentiate into mesodermal and non-mesodermal cells, both in vitro and in vivo. These cells can populate a wide panel of organs such as the liver, the brain, the lungs, the heart.... They appropriately differentiate according to the environment in which they migrate and are known to assume specific functions. Even in adult animals, these cells can migrate and differentiate. Such a potentiality suggests exciting therapeutic outcomes. Brain lesions could benefit of such techniques. These experimental protocols should be precisely controlled before their use in medicine in order to solve problems that still remain such as the permeability of the hemato-encephalic barrier, the integration of differentiated grafted cells into local functional neural networks.